Canonical Allele Identifier: CA434493970
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81695596A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646445A>G , CM000665.2:g.81646445A>G GRCh38
NC_000003.11:g.81695596A>G , CM000665.1:g.81695596A>G GRCh37
NC_000003.10:g.81778286A>G NCBI36
NG_011810.1:g.120356T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.729T>C MANE Select ENSP00000410833.2:p.His243=
ENST00000429644.6:c.729T>C ENSP00000410833.2:p.His243=
ENST00000489715.1:c.606T>C ENSP00000419638.1:p.His202=
ENST00000498468.1:n.279T>C
NM_000158.3:c.729T>C NP_000149.3:p.His243=
NM_000158.4:c.729T>C MANE Select NP_000149.4:p.His243=
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